Discuss the symptoms and effect of Phenylketonuria on the digestive system and homeostasis. What are the available treatments?

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jerichorayel | College Teacher | (Level 2) Senior Educator

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Phenylketonuria (PKU) is a rare genetic condition where in a human is unable to to break down the amino acid phenylalanine (PHE) normally. The enzyme responsible for the conversion of phenylalanine to tyrosine (phenylalanine hydroxylase or PAH) is not functioning. 

Symptoms on digestive and homeostasis includes

1. mental retardation

2.  social relationship issues (resulting from number 1)

3. seizures and tremors

4. high phenylalanine concentration on urine and saliva; thus making the breath and urine have musty odors.

5. hyperactivity

6. Jerking movements of arms and legs

7. head size is smaller than normal


Available treatments

PKU is now considered to be a lifetime treatable disease. Treatable because patient can have have the possibility of living normal and lifetime because PKU depends on the amount ot PHE being taken. PHE level should be monitored so as not to affect the child. The main problem is that PHE is present in almost food in the industry. To carefully select food, patients should have to be consulted to a dietitian in order to regulate the amount of PHE being taken. 

The key treatment for PKU is regulated diet. PHE is significantly present in some dairy products (eggs, cheese, milk etc.) and also in artificially flavored products. Foods that contains aspartame or artificial sweetener should be avoided. 

Babies examined to have PKU are advised to take a PHE-less milks.

Other supplements like fish oils are being encourage in order to help the normal nervous system functioning.

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